Optic Nerve Hypoplasia

For whom is this information intended?
The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers.

The purpose of each information document
The purpose of the information is to explain:

• The way the eyes and brain normally work to make 'vision'
• The reason why vision may become impaired by a specific condition
• The cause of the condition
• The effects of the condition on the child's vision
• How the condition is diagnosed
• What can be done to help?
• Parents' Support Group

This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this.

What this information is not for
This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition. It is not a means to access a 'second opinion' particularly in any medico-legal cases. We hope the information will help you.

After reading the information we hope you will:

• Have a better understanding of the condition
• Know what tests and treatments are normally available
• Know when to seek professional advice
• Be able to discuss the condition in a more informed way
• Make the most of consultations with carers, teachers and health professionals
• Be reassured and more able to cope

Due to staffing limitations we are not able to offer telephone or email advice to parents of children who are not notified with VI Scotland.

Authors
These pages represent the consensus of opinion of many different people who include Parents of Visually Impaired Children, Visually Impaired Children themselves, Community Paediatricians, Ophthalmologists, Educationalists and Psychologists. The main author and person responsible for their content is Dr Andrew Blaikie who is an Ophthalmology Research Fellow with Visual Impairment Scotland and a member of the Royal College of Ophthalmologists.

We are very keen that parents and children feedback to VI Scotland about these information documents.
Visual Impairment, Scotland Scottish Sensory Centre, The University of Edinburgh, Holyrood Road, Edinburgh EH8 8AQ
Telephone Number: 0131 651 6078
Fax Number: 0131 651 6502
Textphone: 0131 651 6067
Email: viscotland@ed.ac.uk

Medical information on Optic Nerve Hypoplasia

What we see is made in the brain from signals given to it by the eyes
What we see is in fact made in the brain. The brain makes sight from signals given to it by the eyes.

What is the normal structure of the eye?
The eye is made of three parts.

• A light focusing bit at the front (cornea and lens).
• A light sensitive film at the back of the eye (retina).
• A large collection of communication wires to the brain (optic nerve).

A curved window called the cornea first focuses the light. The light then passes through a hole called the pupil. A circle of muscle called the iris surrounds the pupil. The iris is the coloured part of the eye. The light is then focused onto the back of the eye by a lens. Tiny light sensitive patches (photoreceptors) cover the back of the eye. These photoreceptors collect information about the visual world. The covering of photoreceptors at the back of the eye forms a thin film known as the retina. Each photoreceptor sends its signals down very fine wires to the brain. The wires joining each eye to the brain are called the optic nerves. The information then travels to many different special vision parts of the brain. All parts of the brain and eye need to be present and working for us to see normally.

 What is Optic Nerve Hypoplasia?

When a baby is growing in the womb sometimes not all of the parts of the eye grow correctly. If a part of the eye does not grow to its full size this is known as hypoplasia. If the part of the eye does not grow at all then this is known as aplasia.

Optic nerve hypoplasia is a condition present from birth in which the eye does not have all the usual wiring between the eye and brain to transfer information about the visual world. The loss of wiring can sometimes be only very small but sometimes can be complete with no information being transferred from the eye to the brain at all. One or both eyes can be affected.

What is the cause of Optic Nerve Hypoplasia?

Nearly all cases of optic nerve hypoplasia occur by chance. Very occasionally cases can be associated with diabetes in the mother during pregnancy. There is no good evidence that the condition runs in families or is caused by prescription or recreational drugs.

How does Optic Nerve Hypoplasia affect a child's vision?

Optic Nerve Hypoplasia can affect vision in different ways. If only a small number of wires in only one eye have failed to grow and the optic nerve is almost normal then the child may also have normal vision. If both optic nerves have almost completely failed to grow properly then the child will have reduced sharpness of vision and may only see bright lights and large shapes. If only a part of the optic nerve does not grow correctly then only a part of the visual world will be missing with the rest almost normal.

Sometimes children can develop fast 'to-and-fro' movements of the eyes (nystagmus) if vision is very poor. Squint can also develop.

Are their any conditions associated with optic nerve hypoplasia?
Sometimes other parts of the brain do not grow correctly when the baby is in the womb. Very rarely a small gland in the brain that makes hormones (the pituitary gland) does not develop and function correctly. If a child is not increasing in height and gaining weight normally then tests can be done to decide if treatment is needed.

How can doctors help?

If one eye is affected more than the other, eye patching can help improve vision. Patching the child’s better eye can encourage the other eye to develop improved vision.

Sometimes children with optic nerve hypoplasia need spectacles. This can improve the child's vision.

Occasionally conditions where certain hormones are lacking can be associated with optic nerve hypoplasia. These conditions must be recognised and treated by a specialist children's doctor (paediatric endocrinologist).

Even if a child has very poor vision many useful and practical things can be done to improve the ability of the child to get around, play with other children and learn.

How can parents, family, friends and teachers make a difference?
We use our vision to get around, learn new things and to meet other people and make friends.

Most children with Optic Nerve Hypoplasia have few problems getting around. The way they act can give the impression that their vision is normal. It is important however to be aware of their own special problems with vision.

Some problems at school may be due to the reading books being hard to see. This often means it takes longer and more effort to do the work. If the size of print is increased most children will find schoolwork easier.

It is worth watching carefully to find out what the smallest toys are that a child can see and play with. Then try to only play with toys that are the same size or bigger.

Recognising facial expressions can often be difficult. It is worth trying to find out at what distance facial expressions can be seen and responded to. Then always try to talk and smile from within this distance. This helps a child to learn what facial expressions mean and to copy them.

Even if a child has very poor vision many useful and practical things can be done to help.

Parents' Support Group